Incidental Mutation 'R7196:4921504E06Rik'
ID 559898
Institutional Source Beutler Lab
Gene Symbol 4921504E06Rik
Ensembl Gene ENSMUSG00000026734
Gene Name RIKEN cDNA 4921504E06 gene
Synonyms
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R7196 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 19467648-19558721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19498806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 396 (S396A)
Ref Sequence ENSEMBL: ENSMUSP00000058720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062060]
AlphaFold Q8CET2
Predicted Effect probably benign
Transcript: ENSMUST00000062060
AA Change: S396A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734
AA Change: S396A

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:DUF4709 36 145 1e-45 PFAM
coiled coil region 165 257 N/A INTRINSIC
low complexity region 366 386 N/A INTRINSIC
coiled coil region 417 463 N/A INTRINSIC
Pfam:DUF4724 477 559 3.9e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (94/95)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Col4a2 A G 8: 11,448,693 (GRCm39) Y71C probably damaging Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dpysl3 T A 18: 43,462,910 (GRCm39) D489V probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Epn1 G A 7: 5,096,380 (GRCm39) D225N possibly damaging Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Pcnx1 G A 12: 82,042,312 (GRCm39) R34H possibly damaging Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Srgap1 T C 10: 121,676,753 (GRCm39) T414A probably benign Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L probably damaging Het
Other mutations in 4921504E06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:4921504E06Rik APN 2 19,545,182 (GRCm39) missense probably benign 0.06
IGL01590:4921504E06Rik APN 2 19,482,590 (GRCm39) splice site probably benign
IGL02264:4921504E06Rik APN 2 19,547,180 (GRCm39) splice site probably null
IGL02591:4921504E06Rik APN 2 19,485,249 (GRCm39) missense probably benign 0.26
H8786:4921504E06Rik UTSW 2 19,498,905 (GRCm39) missense probably benign 0.04
R0545:4921504E06Rik UTSW 2 19,547,187 (GRCm39) missense probably damaging 1.00
R0762:4921504E06Rik UTSW 2 19,482,667 (GRCm39) missense probably damaging 0.97
R1325:4921504E06Rik UTSW 2 19,499,938 (GRCm39) missense possibly damaging 0.71
R1456:4921504E06Rik UTSW 2 19,485,731 (GRCm39) critical splice donor site probably null
R2013:4921504E06Rik UTSW 2 19,545,124 (GRCm39) missense probably benign 0.01
R2089:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R2091:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R2091:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R3922:4921504E06Rik UTSW 2 19,485,371 (GRCm39) missense probably benign 0.00
R3982:4921504E06Rik UTSW 2 19,547,180 (GRCm39) splice site probably null
R3983:4921504E06Rik UTSW 2 19,547,180 (GRCm39) splice site probably null
R4074:4921504E06Rik UTSW 2 19,485,401 (GRCm39) missense probably damaging 0.96
R4995:4921504E06Rik UTSW 2 19,498,995 (GRCm39) nonsense probably null
R5303:4921504E06Rik UTSW 2 19,521,110 (GRCm39) missense possibly damaging 0.92
R5308:4921504E06Rik UTSW 2 19,528,892 (GRCm39) missense probably damaging 1.00
R6227:4921504E06Rik UTSW 2 19,558,581 (GRCm39) splice site probably null
R6253:4921504E06Rik UTSW 2 19,528,929 (GRCm39) missense possibly damaging 0.53
R6268:4921504E06Rik UTSW 2 19,545,219 (GRCm39) missense probably benign 0.10
R6496:4921504E06Rik UTSW 2 19,545,217 (GRCm39) missense probably benign 0.17
R7472:4921504E06Rik UTSW 2 19,545,219 (GRCm39) missense probably benign 0.10
R8146:4921504E06Rik UTSW 2 19,498,814 (GRCm39) missense possibly damaging 0.83
R8150:4921504E06Rik UTSW 2 19,538,635 (GRCm39) missense probably benign 0.10
R8534:4921504E06Rik UTSW 2 19,545,153 (GRCm39) missense probably damaging 1.00
R9067:4921504E06Rik UTSW 2 19,522,493 (GRCm39) missense probably damaging 0.98
Z1177:4921504E06Rik UTSW 2 19,485,343 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ACAATGCAGTTCACTGTAGGTAAC -3'
(R):5'- AGAGGGGACACACTTTCTGC -3'

Sequencing Primer
(F):5'- TAGGGACTTACCAAGATACCCTGGTC -3'
(R):5'- TGCGGCCTCCTTTAGCG -3'
Posted On 2019-06-26